Short Report

Human Genetics

, Volume 114, Issue 3, pp 314-316

First online:

Novel compound heterozygous mutations in SLC5A2 are responsible for autosomal recessive renal glucosuria

  • Joaquim CaladoAffiliated withDepartment of Genetics, Faculty of Medical Sciences, New University of LisbonDepartment of Nephrology, Hospital Fernando da Fonseca Email author 
  • , Karina SotoAffiliated withDepartment of Nephrology, Hospital Fernando da Fonseca
  • , Carla ClementeAffiliated withSTAB GENÓMICA
  • , Pedro CorreiaAffiliated withDepartment of Nephrology, Hospital Fernando da Fonseca
  • , José RueffAffiliated withDepartment of Genetics, Faculty of Medical Sciences, New University of Lisbon

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Abstract

Familial renal glucosuria is an inherited renal tubular disorder. A homozygous nonsense mutation in the SLC5A2 gene, encoding the sodium/glucose co-transporter SGLT2, has recently been identified in an affected child of consanguineous parents. We now report novel compound heterozygous mutations in the son of non-consanguineous parents. One allele has a p.Q167fsX186 mutation, which is expected to produce a truncated protein, and the other a p.N654S mutation involving a highly conserved residue. These findings confirm that mutations in the SLC5A2 gene are responsible for recessive renal glucosuria.